Endocrine

, Volume 38, Issue 1, pp 18–23

L157X nonsense mutation of the succinate dehydrogenase subunit B gene in a Japanese patient with right paraaortic paraganglioma

  • Haruhiro Sato
  • Genta Kanai
  • Kenichi Hirabayshi
  • Hiroshi Kajiwara
  • Johbu Itoh
  • Robert Yoshiyuki Osamura
Case Report

DOI: 10.1007/s12020-010-9365-x

Cite this article as:
Sato, H., Kanai, G., Hirabayshi, K. et al. Endocr (2010) 38: 18. doi:10.1007/s12020-010-9365-x

Abstract

Nuclear genes succinate dehydrogenase B subunit and succinate dehydrogenase D subunit, which encode two mitochondrial complex II subunits, are associated with the development of familial paraganglioma (PGL). Succinate dehydrogenase B subunit gene mutation is highly associated with extraadrenal PGL and subsequent distant metastasis. We describe the case of a 29-year-old Japanese man with a 3-year history of hypertension, headache, and palpitation. Endocrinological examinations showed that the patient had elevated levels of catecholamines, and imaging studies revealed a right paraaortic PGL without distant metastases. The PGL was surgically removed. Genetic analysis of the patient showed a heterozygous thymine deletion at position 470 (c.470delT) in exon 5 of the succinate dehydrogenase B subunit gene complementary DNA. This thymine deletion changed TTG (leucine) to TGA (stop codon) at codon 157 (L157X). It remains unclear whether this mutation was associated with PGL malignancy because the patient has had no metastases for the past 3 years. It has been recently reported that L157X is associated with malignant paraaortic PGL. Thus, strict follow-up is required because this succinate dehydrogenase B subunit gene’s nonsense mutation (L157X) may be related to the malignancy.

Keywords

ParagangliomaSDHBL157XMalignancy

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Haruhiro Sato
    • 1
  • Genta Kanai
    • 1
  • Kenichi Hirabayshi
    • 2
  • Hiroshi Kajiwara
    • 2
  • Johbu Itoh
    • 2
  • Robert Yoshiyuki Osamura
    • 2
  1. 1.Department of MedicineTokai University School of MedicineIseharaJapan
  2. 2.Department of PathologyTokai University School of MedicineIseharaJapan